ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.840T>C (p.Ser280=) (rs767974147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606655 SCV000725839 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588571 SCV000695928 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.840T>C (p.Ser280Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant while 5/5 splice prediction tools predict he variant not to have an impact on normal splicing.. This variant was found in 1/121126 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Based on the synonymous nature of the variant, it was classified as VUS-possibly benign.

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